Linked Data
dbSNP Id:
rs1180750153
gnomAD v2:
2-191879340-C-CTCGGGGCAGAG
gnomAD v3:
2-191014614-C-CTCGGGGCAGAG
gnomAD v4:
2-191014614-C-CTCGGGGCAGAG
MyVariant Identifiers:
chr2:g.191879340_191879341insTCGGGGCAGAG (hg19)
chr2:g.191014614_191014615insTCGGGGCAGAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.191014618_191014619insGGCAGAGTCGG , CM000664.2:g.191014618_191014619insGGCAGAGTCGG | GRCh38 |
| NC_000002.11:g.191879344_191879345insGGCAGAGTCGG , CM000664.1:g.191879344_191879345insGGCAGAGTCGG | GRCh37 |
| NC_000002.10:g.191587589_191587590insGGCAGAGTCGG | NCBI36 |
| NG_008294.1:g.4636_4637insCTCTGCCCCGA , LRG_111:g.4636_4637insCTCTGCCCCGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432058.1:c.-155-937_-155-936insCTCTGCCCCGA | ENSP00000416019.1:n.-155-937_-155-936insCTCTGCCCCGA | |
| ENST00000454414.5:c.-1-4611_-1-4610insCTCTGCCCCGA | ENSP00000411398.1:n.-1-4611_-1-4610insCTCTGCCCCGA |